| D009100 |
Multiple Carboxylase Deficiency |
A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. |
Carboxylase Deficiency, Multiple,Combined Carboxylase Deficiency,Carboxylase Deficiency, Combined,Deficiency, Combined Carboxylase,Deficiency, Multiple Carboxylase,Carboxylase Deficiencies, Combined,Carboxylase Deficiencies, Multiple,Combined Carboxylase Deficiencies,Deficiencies, Combined Carboxylase,Deficiencies, Multiple Carboxylase,Multiple Carboxylase Deficiencies |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D001710 |
Biotin |
A water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk. |
Vitamin H,Biodermatin,Biokur,Biotin Gelfert,Biotin Hermes,Biotin-Ratiopharm,Biotine Roche,Deacura,Gabunat,Medebiotin,Medobiotin,Rombellin,Biotin Ratiopharm,Gelfert, Biotin,Hermes, Biotin,Roche, Biotine |
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